ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CDKN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1258 | 1410 | |
DMRT1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 297 | |
ELAVL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
21 | 96 | |
MTAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 251 | |
DMRT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
139 | 329 | |
FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
882 | 1030 | |
KANK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
814 | 1157 | |
SMARCA2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1166 | 1340 | |
ACER2 | - | - |
GRCh38 GRCh37 |
23 | 119 | |
ACO1 | - | - |
GRCh38 GRCh37 |
57 | 123 |
There are 106 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053827.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023